Integrative Approaches to Identifying Genetic Causes of Familial Breast Cancer

Breast cancer affects one in seven women in Australia. Around 10-15% are familial breast cancers with predisposing genetic factors. The identification and understanding of these genetic factors are crucial in the clinical management and care of patients and variant carriers. This thesis examines the evidence from a large case-control study, sequencing of tumours, and CRISPR-edited cell models, to identify candidate genes in breast cancer predisposition. The findings from this thesis contributed to the identification of breast cancer predisposing genes and refined the current knowledge of the genetic landscape of familial breast cancer.